Hs04603956_cn

• Gene Symbol: RPIA
• Assay Reference Genome Location: Chr.2:88696122 on build GRCh38
• Cytoband: 2p11.2

Target Gene Details

• Entrez Gene ID: 22934
• Gene Name: ribose 5-phosphate isomerase A
• Gene Aliases: RPI, RPIAD
• Location: Chr.2:88691658-88750935 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RPIA	NM_144563.2			NP_653164.2
	AY050633.1			AAK95569.1
	BC015529.1
	CB989690.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv470476	Chr.2:88384248 - 88829483 on Build GRCh38	Gain	EIF2AK3 LOC101928371 RPIA MIR4436A FOXI3 LOC101928403 TEX37 ANKRD36BP2
dgv61n16	Chr.2:87343737 - 90254660 on Build GRCh38	Deletion	PLGLB2 IGKV3D-15 IGKV1D-8 RPIA KRCC1 IGKV2-24 FABP1 ANKRD36BP2 IGKC IGKV1D-13 IGKV2-26 LINC00152 IGK LOC101927050 IGKV1-5 EIF2AK3 SMYD1 IGKV3-20 LOC107985911 LOC730268 RGPD2 LOC101928371 MIR4436A IGKV2-29 MIR4780 FOXI3 THNSL2 MIR4435-1 LOC101928403 TEX37
nsv1072005	Chr.2:87360367 - 90256528 on Build GRCh38	Deletion	PLGLB2 IGKV3D-15 IGKV1D-8 RPIA KRCC1 IGKV2-24 FABP1 ANKRD36BP2 IGKC IGKV1D-13 IGKV2-26 LINC00152 IGK LOC101927050 IGKV1-5 EIF2AK3 SMYD1 IGKV3-20 LOC107985911 LOC730268 RGPD2 LOC101928371 MIR4436A IGKV2-29 MIR4780 FOXI3 THNSL2 MIR4435-1 LOC101928403 TEX37
dgv6947n54	Chr.2:87815738 - 88850700 on Build GRCh38	Gain	EIF2AK3 SMYD1 RPIA KRCC1 FABP1 ANKRD36BP2 RGPD2 LOC101928371 MIR4436A MIR4780 FOXI3 THNSL2 LOC101928403 TEX37
nsv1148611	Chr.2:87360364 - 90256525 on Build GRCh38	Deletion	PLGLB2 IGKV3D-15 IGKV1D-8 RPIA KRCC1 IGKV2-24 FABP1 ANKRD36BP2 IGKC IGKV1D-13 IGKV2-26 LINC00152 IGK LOC101927050 IGKV1-5 EIF2AK3 SMYD1 IGKV3-20 LOC107985911 LOC730268 RGPD2 LOC101928371 MIR4436A IGKV2-29 MIR4780 FOXI3 THNSL2 MIR4435-1 LOC101928403 TEX37
nsv834290	Chr.2:88686704 - 88894261 on Build GRCh38	Loss	RPIA MIR4436A IGK ANKRD36BP2 IGKC
nsv582384	Chr.2:87987149 - 88773214 on Build GRCh38	Loss	EIF2AK3 SMYD1 RPIA KRCC1 FABP1 ANKRD36BP2 RGPD2 LOC101928371 MIR4780 FOXI3 THNSL2 LOC101928403 TEX37
nsv582386	Chr.2:88035188 - 89208087 on Build GRCh38	Loss	IGKV1-5 EIF2AK3 SMYD1 RPIA KRCC1 IGKV2-24 IGKV3-20 FABP1 ANKRD36BP2 IGKC LOC101928371 MIR4436A IGKV2-26 MIR4780 FOXI3 THNSL2 LOC101928403 TEX37 IGK
esv3591594	Chr.2:88694856 - 88697188 on Build GRCh38	Loss	RPIA

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

isomerase

Gene Ontology Categories:

Process(es)

pentose-phosphate shunt
pentose-phosphate shunt, non-oxidative branch

Function(s)

ribose-5-phosphate isomerase activity
protein binding
monosaccharide binding